ABSTRACT
Background: Surgical lung biopsy (SLB) or video-assisted thoracic surgery (VATS) has been the traditional gold standard modality for diagnosing paediatric interstitial lung diseases. Cryobiopsy of the lung has recently been shown to be a novel technique with very good sensitivity and specificity in the diagnosis of various interstitial lung disorders in adults. Although there are a few case reports of the same in children, pediatric cryo lung biopsies are rarely performed due to the lack of the necessary equipment and the lack of expertise. Methods: A retrospective single-centre study was conducted with twelve consecutive children with diffuse parenchymal lung disease diagnosed both clinically and on high-resolution computed tomography (HRCT) of the chest which were included in the study between October 2020 and September 2022 to measure the diagnostic yield and safety of the procedure. The site from where cryobiopsy was to be done was chosen after a multidisciplinary meeting with the paediatric radiologist. Results: Twelve children (eight males and four females) were included in the study who underwent a cryobiopsy in the duration of two years. The mean age of the cases involved was 8 years and 3 months. With the youngest and oldest being 12 days and 15 years, respectively, all children underwent cryobiopsy as mentioned above. Diagnostic yield was achieved in 92% of cases. Conclusion: Cryobiopsy is a valuable diagnostic tool in childhood interstitial lung diseases, which offers a less invasive option for obtaining lung tissue samples with a better yield which can aid in accurate diagnosis, a good safety profile and a shorter hospital stay. Our study emphasizes that in trained centres, TBCB is a safe, effective and less invasive way to obtain tissue diagnosis in children with ChILD.
ABSTRACT
A 9-year-old school-going boy was referred to us for evaluation of childhood interstitial lung disease (chILD), with complaints of persisting dry cough, since the newborn period, tachypnea at rest, and failure to gain weight. Upon evaluation his findings were consistent with William-Campbell syndrome (WCS). He was advised for airway clearance technique (ACT) and was started on Bipap at night for splinting of the airways.
ABSTRACT
Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly progressive disease, early diagnosis is of utmost importance which helps to initiate appropriate treatment. Recent studies suggest that PVOD has a genetic predisposition and has an autosomal recessive pattern of inheritance. Here, we discuss the case of siblings diagnosed with PVOD to have such genetic predisposition for this disease.
ABSTRACT
Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classified as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically affecting function of brain, eye, ear, and skin. Here, a first-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging findings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.
